A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 28556183.
- Also identified by DOI 10.1002/ana.24970 and PMC identifier 5601183.
- Licence recorded as CC BY-NC-ND.
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Abstract
Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1-DS (23 patients; 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1-DS in children and adults with cognitive impairment, movement disorder, or epilepsy. Ann Neurol 2017;82:133-138.
Medical subject headings
- Carbohydrate Metabolism, Inborn Errors
- Glucose Transporter Type 1
- Hematologic Tests
- Monosaccharide Transport Proteins